Association study of calcitonin gene-related polypeptide-alpha (CALCA) gene polymorphism with migraine

Menon, S, Buteri, J., Roy, B., Murrell, M., Quinlan, S., MacMillan, J. C., Lea, R. A., Haupt, L. M. and Griffiths, L. R. (2011) Association study of calcitonin gene-related polypeptide-alpha (CALCA) gene polymorphism with migraine. Brain Research, 1378 119-124. doi:10.1016/j.brainres.2010.12.072


Author Menon, S
Buteri, J.
Roy, B.
Murrell, M.
Quinlan, S.
MacMillan, J. C.
Lea, R. A.
Haupt, L. M.
Griffiths, L. R.
Title Association study of calcitonin gene-related polypeptide-alpha (CALCA) gene polymorphism with migraine
Journal name Brain Research   Check publisher's open access policy
ISSN 0006-8993
1872-6240
Publication date 2011-03-10
Year available 2010
Sub-type Article (original research)
DOI 10.1016/j.brainres.2010.12.072
Volume 1378
Start page 119
End page 124
Total pages 6
Place of publication Amsterdam, Netherlands
Publisher Elsevier BV
Collection year 2012
Language eng
Abstract Migraine is a neurological disorder that is associated with increased levels of calcitonin gene-related peptide (CGRP) in plasma. CGRP, being one of the mediators of neurogenic inflammation and a phenomenon implicated in the pathogenesis of migraine headache, is thus suggested to have an important role in migraine pathophysiology. Polymorphisms of the CALCA gene have been linked to Parkinson's disease, ovarian cancer and essential hypertension, suggesting a functional role for these polymorphisms. Given the strong evidence linking CGRP and migraine, it is hypothesised that polymorphisms in the CALCA gene may play a role in migraine pathogenesis. Seemingly non functional intronic polymorphisms are capable of disrupting normal RNA processing or introducing a splice site in the transcript. A 16 bp deletion in the first intron of the CALCA gene has been reported to be a good match for the binding site for a transcription factor expressed strongly in neural crest derived cells, AP-2. This deletion also eliminates an intron splicing enhancer (ISE) that may potentially cause exon skipping. This study investigated the role of the 16 bp intronic deletion in the CALCA gene in migraineurs and matched control individuals. Six hundred individuals were genotyped for the deletion by polymerase chain reaction followed by fragment analysis on the 3130 Genetic Analyser. The results of this study showed no significant association between the intronic 16 bp deletion in the CALCA gene and migraine in the tested Australian Caucasian population. However, given the evidence linking CGRP and migraine, further investigation of variants with this gene may be warranted. © 2010 Elsevier B.V. All rights reserved.
Keyword CALCA
CGRP
Migraine
Polymorphism
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ
Additional Notes Available online 31 December 2010

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
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Created: Mon, 04 Apr 2011, 11:31:10 EST by Susan Allen on behalf of Institute for Molecular Bioscience